ClinVar Miner

List of variants in gene SMARCAL1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 340
Download table as spreadsheet
HGVS dbSNP
NC_000002.11:g.(?_217285012)_(217315797_?)dup
NC_000002.11:g.(?_217311731)_(217311891_?)del
NC_000002.12:g.(?_216414695)_(216416317_?)del
NC_000002.12:g.(?_216416237)_(216416327_?)del
NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_014140.3(SMARCAL1):c.1001G>A (p.Arg334Gln) rs138575228
NM_014140.3(SMARCAL1):c.1030G>A (p.Glu344Lys) rs370663120
NM_014140.3(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518
NM_014140.3(SMARCAL1):c.1190del (p.Leu397fs) rs766291662
NM_014140.3(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089
NM_014140.3(SMARCAL1):c.1212G>A (p.Ala404=) rs2066525
NM_014140.3(SMARCAL1):c.1243A>G (p.Ser415Gly) rs58848916
NM_014140.3(SMARCAL1):c.1251G>A (p.Thr417=) rs372331472
NM_014140.3(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520
NM_014140.3(SMARCAL1):c.127G>A (p.Ala43Thr) rs2066524
NM_014140.3(SMARCAL1):c.1297G>A (p.Val433Met) rs374696042
NM_014140.3(SMARCAL1):c.1317T>G (p.Phe439Leu) rs771757954
NM_014140.3(SMARCAL1):c.1375G>A (p.Asp459Asn) rs1574456732
NM_014140.3(SMARCAL1):c.1407C>T (p.Ile469=) rs750621192
NM_014140.3(SMARCAL1):c.1413C>T (p.Ile471=) rs149599324
NM_014140.3(SMARCAL1):c.1414G>A (p.Ala472Thr) rs571392819
NM_014140.3(SMARCAL1):c.1427G>A (p.Arg476Gln) rs142164846
NM_014140.3(SMARCAL1):c.1453G>T (p.Val485Leu) rs1574456834
NM_014140.3(SMARCAL1):c.1485+10C>T rs886042157
NM_014140.3(SMARCAL1):c.1594C>T (p.Leu532Phe) rs968239393
NM_014140.3(SMARCAL1):c.1727T>C (p.Ile576Thr) rs138819354
NM_014140.3(SMARCAL1):c.1732T>C (p.Leu578=) rs370667576
NM_014140.3(SMARCAL1):c.1762G>A (p.Ala588Thr) rs769553029
NM_014140.3(SMARCAL1):c.1786G>A (p.Ala596Thr) rs143100109
NM_014140.3(SMARCAL1):c.179A>C (p.Glu60Ala) rs766086132
NM_014140.3(SMARCAL1):c.1851+5G>A rs2066514
NM_014140.3(SMARCAL1):c.1933C>T (p.Arg645Cys) rs119473037
NM_014140.3(SMARCAL1):c.1947C>T (p.Asp649=) rs2066526
NM_014140.3(SMARCAL1):c.1993G>T (p.Ala665Ser) rs768868466
NM_014140.3(SMARCAL1):c.1995C>T (p.Ala665=) rs151241914
NM_014140.3(SMARCAL1):c.2009A>G (p.Asn670Ser) rs752621052
NM_014140.3(SMARCAL1):c.2070T>C (p.Thr690=) rs2066527
NM_014140.3(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381
NM_014140.3(SMARCAL1):c.2141+17T>C rs2066516
NM_014140.3(SMARCAL1):c.2141T>C (p.Ile714Thr) rs372158077
NM_014140.3(SMARCAL1):c.2225C>T (p.Thr742Met) rs2271336
NM_014140.3(SMARCAL1):c.2226G>A (p.Thr742=) rs2271335
NM_014140.3(SMARCAL1):c.2260C>T (p.Arg754Cys) rs1226816517
NM_014140.3(SMARCAL1):c.2290C>T (p.Arg764Trp) rs1480919035
NM_014140.3(SMARCAL1):c.2291G>A (p.Arg764Gln) rs267607071
NM_014140.3(SMARCAL1):c.2321C>A (p.Ser774Ter) rs149425324
NM_014140.3(SMARCAL1):c.2322G>A (p.Ser774=) rs139445683
NM_014140.3(SMARCAL1):c.2340C>T (p.Ala780=) rs780778758
NM_014140.3(SMARCAL1):c.2401T>G (p.Phe801Val) rs200679534
NM_014140.3(SMARCAL1):c.2427+9C>T rs201601053
NM_014140.3(SMARCAL1):c.2497G>A (p.Val833Met) rs756015461
NM_014140.3(SMARCAL1):c.2528+5G>C rs145908212
NM_014140.3(SMARCAL1):c.2600C>T (p.Thr867Ile) rs752153044
NM_014140.3(SMARCAL1):c.2641A>C (p.Lys881Gln) rs190386780
NM_014140.3(SMARCAL1):c.2712G>A (p.Glu904=) rs150767214
NM_014140.3(SMARCAL1):c.2735C>T (p.Ser912Leu) rs763670564
NM_014140.3(SMARCAL1):c.2768G>A (p.Gly923Glu) rs1559140332
NM_014140.3(SMARCAL1):c.2778G>A (p.Leu926=) rs373335368
NM_014140.3(SMARCAL1):c.340C>G (p.Arg114Gly) rs202031614
NM_014140.3(SMARCAL1):c.341G>A (p.Arg114His) rs11555797
NM_014140.3(SMARCAL1):c.415_416del (p.Leu139fs) rs781023326
NM_014140.3(SMARCAL1):c.423T>C (p.Tyr141=) rs35907255
NM_014140.3(SMARCAL1):c.488C>A (p.Thr163Asn) rs748188404
NM_014140.3(SMARCAL1):c.49C>T (p.Arg17Ter) rs119473034
NM_014140.3(SMARCAL1):c.506A>G (p.Lys169Arg) rs777999697
NM_014140.3(SMARCAL1):c.565A>G (p.Lys189Glu) rs754147208
NM_014140.3(SMARCAL1):c.603G>C (p.Gly201=) rs35048226
NM_014140.3(SMARCAL1):c.675G>A (p.Lys225=) rs751534116
NM_014140.3(SMARCAL1):c.72A>G (p.Arg24=) rs199805770
NM_014140.3(SMARCAL1):c.734G>A (p.Gly245Asp) rs1574443795
NM_014140.3(SMARCAL1):c.735C>T (p.Gly245=) rs149510554
NM_014140.3(SMARCAL1):c.765T>C (p.Asn255=) rs764441226
NM_014140.3(SMARCAL1):c.776T>C (p.Ile259Thr) rs750671325
NM_014140.3(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827
NM_014140.3(SMARCAL1):c.863-2A>G rs761546902
NM_014140.3(SMARCAL1):c.863-9C>G rs188833040
NM_014140.3(SMARCAL1):c.901C>G (p.Pro301Ala) rs146084305
NM_014140.3(SMARCAL1):c.922A>G (p.Ser308Gly) rs1312214950
NM_014140.3(SMARCAL1):c.927C>T (p.Ser309=) rs139949668
NM_014140.3(SMARCAL1):c.945C>G (p.Ser315Arg) rs2066522
NM_014140.3(SMARCAL1):c.960C>T (p.Ala320=) rs2066513
NM_014140.3(SMARCAL1):c.962G>A (p.Gly321Asp) rs148752234
NM_014140.4(SMARCAL1):c.1000C>A (p.Arg334=)
NM_014140.4(SMARCAL1):c.1000C>T (p.Arg334Ter)
NM_014140.4(SMARCAL1):c.1011C>T (p.Leu337=)
NM_014140.4(SMARCAL1):c.1031A>G (p.Glu344Gly)
NM_014140.4(SMARCAL1):c.1065G>A (p.Ala355=)
NM_014140.4(SMARCAL1):c.1069T>A rs369180164
NM_014140.4(SMARCAL1):c.108T>C (p.Thr36=)
NM_014140.4(SMARCAL1):c.1097-10G>T
NM_014140.4(SMARCAL1):c.1097-14T>C
NM_014140.4(SMARCAL1):c.109A>G (p.Ser37Gly)
NM_014140.4(SMARCAL1):c.111C>T (p.Ser37=)
NM_014140.4(SMARCAL1):c.1125C>G (p.Leu375=)
NM_014140.4(SMARCAL1):c.1131A>G (p.Glu377=)
NM_014140.4(SMARCAL1):c.1147+8G>A rs759562755
NM_014140.4(SMARCAL1):c.1148-4T>G
NM_014140.4(SMARCAL1):c.114G>A (p.Ser38=)
NM_014140.4(SMARCAL1):c.1158G>A (p.Val386=)
NM_014140.4(SMARCAL1):c.117C>T (p.Gly39=) rs565316605
NM_014140.4(SMARCAL1):c.1189C>T (p.Leu397=)
NM_014140.4(SMARCAL1):c.1191del (p.Thr399fs)
NM_014140.4(SMARCAL1):c.1200T>C (p.Thr400=)
NM_014140.4(SMARCAL1):c.1203C>A (p.Leu401=)
NM_014140.4(SMARCAL1):c.1203C>T (p.Leu401=)
NM_014140.4(SMARCAL1):c.1206C>T (p.Thr402=)
NM_014140.4(SMARCAL1):c.1210del (p.Ala404fs)
NM_014140.4(SMARCAL1):c.1218T>A (p.Ala406=)
NM_014140.4(SMARCAL1):c.1248dup (p.Thr417fs) rs535448005
NM_014140.4(SMARCAL1):c.124A>G (p.Ile42Val)
NM_014140.4(SMARCAL1):c.1263dup (p.Glu422fs)
NM_014140.4(SMARCAL1):c.1278T>A (p.Ser426=)
NM_014140.4(SMARCAL1):c.1290C>G (p.Pro430=)
NM_014140.4(SMARCAL1):c.1296C>T (p.Leu432=) rs151159565
NM_014140.4(SMARCAL1):c.1299G>A (p.Val433=)
NM_014140.4(SMARCAL1):c.1314C>T (p.Pro438=)
NM_014140.4(SMARCAL1):c.1334+8C>G rs1574453912
NM_014140.4(SMARCAL1):c.1360C>T (p.Leu454=) rs753714268
NM_014140.4(SMARCAL1):c.1368C>T (p.Leu456=)
NM_014140.4(SMARCAL1):c.1369G>A (p.Ala457Thr)
NM_014140.4(SMARCAL1):c.1371T>C (p.Ala457=)
NM_014140.4(SMARCAL1):c.1374C>T (p.Asp458=) rs200566186
NM_014140.4(SMARCAL1):c.1402G>C (p.Ala468Pro)
NM_014140.4(SMARCAL1):c.1433A>G (p.Glu478Gly)
NM_014140.4(SMARCAL1):c.1439C>T (p.Pro480Leu)
NM_014140.4(SMARCAL1):c.1440G>A (p.Pro480=) rs367557310
NM_014140.4(SMARCAL1):c.1442T>C (p.Leu481Pro)
NM_014140.4(SMARCAL1):c.1443C>T (p.Leu481=) rs751122020
NM_014140.4(SMARCAL1):c.1464C>T (p.Ser488=)
NM_014140.4(SMARCAL1):c.1467G>A (p.Val489=) rs145525014
NM_014140.4(SMARCAL1):c.1468C>T (p.Arg490Cys)
NM_014140.4(SMARCAL1):c.1469G>A (p.Arg490His)
NM_014140.4(SMARCAL1):c.1486-6C>T rs1390292771
NM_014140.4(SMARCAL1):c.1497G>A (p.Arg499=)
NM_014140.4(SMARCAL1):c.1503del (p.Pro502fs)
NM_014140.4(SMARCAL1):c.1510C>T (p.Leu504=)
NM_014140.4(SMARCAL1):c.1517del (p.Pro506fs)
NM_014140.4(SMARCAL1):c.1530C>T (p.Asn510=)
NM_014140.4(SMARCAL1):c.1533C>T (p.Val511=)
NM_014140.4(SMARCAL1):c.1534G>A (p.Val512Met) rs35087810
NM_014140.4(SMARCAL1):c.1544_1569del (p.Gly515fs)
NM_014140.4(SMARCAL1):c.1552C>T (p.Arg518Cys)
NM_014140.4(SMARCAL1):c.1553G>A rs774075396
NM_014140.4(SMARCAL1):c.1557G>A (p.Leu519=)
NM_014140.4(SMARCAL1):c.156C>A (p.Gly52=)
NM_014140.4(SMARCAL1):c.1572C>T (p.Ile524=)
NM_014140.4(SMARCAL1):c.1622C>A (p.Thr541Asn)
NM_014140.4(SMARCAL1):c.1626T>G (p.Pro542=)
NM_014140.4(SMARCAL1):c.1642A>G (p.Ile548Val)
NM_014140.4(SMARCAL1):c.1642_1644del (p.Ile548del)
NM_014140.4(SMARCAL1):c.1644+1G>T
NM_014140.4(SMARCAL1):c.1645-10T>C rs780292291
NM_014140.4(SMARCAL1):c.1645-2A>G
NM_014140.4(SMARCAL1):c.1653T>C (p.Ser551=)
NM_014140.4(SMARCAL1):c.1677T>G (p.Thr559=)
NM_014140.4(SMARCAL1):c.1687C>T (p.Arg563Ter)
NM_014140.4(SMARCAL1):c.1699C>A (p.Pro567Thr)
NM_014140.4(SMARCAL1):c.1701G>A (p.Pro567=) rs763289234
NM_014140.4(SMARCAL1):c.1711-9G>A
NM_014140.4(SMARCAL1):c.1711-9G>T
NM_014140.4(SMARCAL1):c.1722G>A (p.Arg574=)
NM_014140.4(SMARCAL1):c.1736C>T (p.Ser579Leu)
NM_014140.4(SMARCAL1):c.1750A>G (p.Met584Val)
NM_014140.4(SMARCAL1):c.1755C>G (p.Ser585=)
NM_014140.4(SMARCAL1):c.1758G>C (p.Arg586=)
NM_014140.4(SMARCAL1):c.1761C>G (p.Pro587=)
NM_014140.4(SMARCAL1):c.1761C>T (p.Pro587=) rs781340148
NM_014140.4(SMARCAL1):c.1762G>T (p.Ala588Ser)
NM_014140.4(SMARCAL1):c.1776G>A (p.Thr592=) rs372995559
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=) rs145825654
NM_014140.4(SMARCAL1):c.1788A>T (p.Ala596=)
NM_014140.4(SMARCAL1):c.1794G>A (p.Lys598=)
NM_014140.4(SMARCAL1):c.1851+8T>C
NM_014140.4(SMARCAL1):c.1857T>C (p.Pro619=)
NM_014140.4(SMARCAL1):c.1863G>A (p.Gly621=) rs777370537
NM_014140.4(SMARCAL1):c.186T>C (p.Cys62=)
NM_014140.4(SMARCAL1):c.1878T>C (p.Gly626=)
NM_014140.4(SMARCAL1):c.1887C>T (p.Asn629=)
NM_014140.4(SMARCAL1):c.189G>A (p.Lys63=) rs1360338749
NM_014140.4(SMARCAL1):c.1905C>T (p.Leu635=)
NM_014140.4(SMARCAL1):c.1908G>A (p.Leu636=) rs375844575
NM_014140.4(SMARCAL1):c.192A>C (p.Pro64=)
NM_014140.4(SMARCAL1):c.1930C>T (p.Arg644Trp)
NM_014140.4(SMARCAL1):c.1934_1935del (p.Arg645fs)
NM_014140.4(SMARCAL1):c.1941G>A (p.Lys647=)
NM_014140.4(SMARCAL1):c.1944C>T (p.Ser648=) rs752241342
NM_014140.4(SMARCAL1):c.1948G>A (p.Val650Ile) rs200734842
NM_014140.4(SMARCAL1):c.1971G>A (p.Lys657=)
NM_014140.4(SMARCAL1):c.1975C>T (p.Arg659Cys)
NM_014140.4(SMARCAL1):c.2028C>T (p.Ala676=)
NM_014140.4(SMARCAL1):c.2031G>A (p.Leu677=)
NM_014140.4(SMARCAL1):c.2070+2dup
NM_014140.4(SMARCAL1):c.2070+9A>T
NM_014140.4(SMARCAL1):c.2073A>G (p.Lys691=) rs112200018
NM_014140.4(SMARCAL1):c.2083A>C (p.Lys695Gln)
NM_014140.4(SMARCAL1):c.2106C>T (p.Phe702=)
NM_014140.4(SMARCAL1):c.2133A>G (p.Pro711=)
NM_014140.4(SMARCAL1):c.2141+10C>T rs1574477107
NM_014140.4(SMARCAL1):c.2141+1G>A
NM_014140.4(SMARCAL1):c.2141+7G>T
NM_014140.4(SMARCAL1):c.2148T>C (p.Tyr716=)
NM_014140.4(SMARCAL1):c.2161C>T (p.Leu721=)
NM_014140.4(SMARCAL1):c.2175A>G (p.Arg725=)
NM_014140.4(SMARCAL1):c.2208G>C (p.Val736=)
NM_014140.4(SMARCAL1):c.2217C>T (p.Asp739=)
NM_014140.4(SMARCAL1):c.221A>G (p.Gln74Arg)
NM_014140.4(SMARCAL1):c.2226G>T (p.Thr742=)
NM_014140.4(SMARCAL1):c.2232G>A (p.Glu744=)
NM_014140.4(SMARCAL1):c.2243A>T (p.Lys748Met)
NM_014140.4(SMARCAL1):c.2244+10C>T
NM_014140.4(SMARCAL1):c.2245-10G>T
NM_014140.4(SMARCAL1):c.2245-4G>A
NM_014140.4(SMARCAL1):c.2245-5T>C rs1574484081
NM_014140.4(SMARCAL1):c.2245C>T (p.His749Tyr)
NM_014140.4(SMARCAL1):c.2247C>T (p.His749=) rs775975242
NM_014140.4(SMARCAL1):c.2263A>G (p.Ile755Val)
NM_014140.4(SMARCAL1):c.2265C>T (p.Ile755=)
NM_014140.4(SMARCAL1):c.2301G>A (p.Leu767=)
NM_014140.4(SMARCAL1):c.2304C>T (p.Cys768=)
NM_014140.4(SMARCAL1):c.2341G>A (p.Val781Met)
NM_014140.4(SMARCAL1):c.2343G>A (p.Val781=)
NM_014140.4(SMARCAL1):c.2343G>T (p.Val781=)
NM_014140.4(SMARCAL1):c.2355C>T (p.Thr785=)
NM_014140.4(SMARCAL1):c.2356G>A (p.Ala786Thr)
NM_014140.4(SMARCAL1):c.2364T>C (p.Asn788=) rs2066517
NM_014140.4(SMARCAL1):c.236C>T (p.Ser79Leu)
NM_014140.4(SMARCAL1):c.2389G>A (p.Asp797Asn)
NM_014140.4(SMARCAL1):c.2403T>C (p.Phe801=)
NM_014140.4(SMARCAL1):c.2406T>C (p.Ala802=)
NM_014140.4(SMARCAL1):c.2406T>G (p.Ala802=)
NM_014140.4(SMARCAL1):c.2409G>A (p.Glu803=)
NM_014140.4(SMARCAL1):c.2424del (p.Val810fs)
NM_014140.4(SMARCAL1):c.2425G>A (p.Gly809Arg)
NM_014140.4(SMARCAL1):c.2427+10G>A
NM_014140.4(SMARCAL1):c.2427+10G>T
NM_014140.4(SMARCAL1):c.2427+1G>A rs1559138455
NM_014140.4(SMARCAL1):c.2428-8A>G
NM_014140.4(SMARCAL1):c.2439G>A (p.Gln813=)
NM_014140.4(SMARCAL1):c.2451C>T (p.Arg817=)
NM_014140.4(SMARCAL1):c.2454G>A (p.Val818=)
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His) rs200666300
NM_014140.4(SMARCAL1):c.2472C>G (p.Thr824=) rs1338342544
NM_014140.4(SMARCAL1):c.2478C>T (p.Ser826=)
NM_014140.4(SMARCAL1):c.2481G>A (p.Val827=)
NM_014140.4(SMARCAL1):c.2496C>T (p.Leu832=) rs750345128
NM_014140.4(SMARCAL1):c.2511A>G (p.Thr837=)
NM_014140.4(SMARCAL1):c.2512G>A (p.Ala838Thr)
NM_014140.4(SMARCAL1):c.2526T>A (p.Leu842=)
NM_014140.4(SMARCAL1):c.2528+7_2528+15del
NM_014140.4(SMARCAL1):c.2529-5A>G
NM_014140.4(SMARCAL1):c.2532C>T (p.Pro844=) rs747379387
NM_014140.4(SMARCAL1):c.2534T>A (p.Leu845Gln)
NM_014140.4(SMARCAL1):c.2556T>C (p.Val852=) rs1574485907
NM_014140.4(SMARCAL1):c.2568C>T (p.Ala856=)
NM_014140.4(SMARCAL1):c.258T>G (p.Pro86=) rs763888223
NM_014140.4(SMARCAL1):c.2626-4G>A
NM_014140.4(SMARCAL1):c.2644_2646del (p.Ile882del)
NM_014140.4(SMARCAL1):c.2649C>T (p.Tyr883=) rs182217350
NM_014140.4(SMARCAL1):c.2650G>A (p.Asp884Asn)
NM_014140.4(SMARCAL1):c.2679A>G (p.Glu893=)
NM_014140.4(SMARCAL1):c.2682A>G (p.Gly894=)
NM_014140.4(SMARCAL1):c.270C>T (p.His90=)
NM_014140.4(SMARCAL1):c.270_271del (p.His90fs) rs1574443133
NM_014140.4(SMARCAL1):c.2715C>T (p.Ser905=)
NM_014140.4(SMARCAL1):c.2754T>C (p.Ser918=) rs1033156954
NM_014140.4(SMARCAL1):c.2764A>G (p.Met922Val)
NM_014140.4(SMARCAL1):c.2765T>C rs200431186
NM_014140.4(SMARCAL1):c.2787C>T (p.Ser929=)
NM_014140.4(SMARCAL1):c.279G>A (p.Gln93=)
NM_014140.4(SMARCAL1):c.2837A>C (p.Asn946Thr)
NM_014140.4(SMARCAL1):c.2844C>T (p.Asp948=)
NM_014140.4(SMARCAL1):c.2853G>A (p.Thr951=)
NM_014140.4(SMARCAL1):c.330C>A (p.Gly110=)
NM_014140.4(SMARCAL1):c.333C>T (p.His111=)
NM_014140.4(SMARCAL1):c.334_340dup (p.Arg114fs)
NM_014140.4(SMARCAL1):c.364A>G (p.Ile122Val)
NM_014140.4(SMARCAL1):c.379G>C (p.Ala127Pro)
NM_014140.4(SMARCAL1):c.387T>C (p.Ser129=) rs947471355
NM_014140.4(SMARCAL1):c.408A>G (p.Gln136=) rs1574443312
NM_014140.4(SMARCAL1):c.409C>T (p.Gln137Ter)
NM_014140.4(SMARCAL1):c.422A>G (p.Tyr141Cys)
NM_014140.4(SMARCAL1):c.426G>A (p.Glu142=) rs767158204
NM_014140.4(SMARCAL1):c.432T>C (p.Gly144=)
NM_014140.4(SMARCAL1):c.445C>T (p.Gln149Ter)
NM_014140.4(SMARCAL1):c.448G>T (p.Ala150Ser)
NM_014140.4(SMARCAL1):c.499C>T (p.Leu167=)
NM_014140.4(SMARCAL1):c.510A>G (p.Pro170=)
NM_014140.4(SMARCAL1):c.546A>G (p.Gly182=)
NM_014140.4(SMARCAL1):c.549G>T (p.Gln183His)
NM_014140.4(SMARCAL1):c.553C>T (p.Pro185Ser)
NM_014140.4(SMARCAL1):c.597T>C (p.Pro199=) rs758479373
NM_014140.4(SMARCAL1):c.603G>A (p.Gly201=)
NM_014140.4(SMARCAL1):c.609C>T (p.Asn203=)
NM_014140.4(SMARCAL1):c.609del (p.Asn203fs)
NM_014140.4(SMARCAL1):c.636G>A (p.Glu212=)
NM_014140.4(SMARCAL1):c.641dup (p.Thr215fs)
NM_014140.4(SMARCAL1):c.645G>A (p.Thr215=)
NM_014140.4(SMARCAL1):c.666C>T (p.Leu222=)
NM_014140.4(SMARCAL1):c.669G>A (p.Gln223=)
NM_014140.4(SMARCAL1):c.677C>T (p.Ser226Leu)
NM_014140.4(SMARCAL1):c.67C>T (p.Arg23Cys)
NM_014140.4(SMARCAL1):c.687A>C (p.Ser229=)
NM_014140.4(SMARCAL1):c.68G>A (p.Arg23His)
NM_014140.4(SMARCAL1):c.690C>T (p.Val230=) rs757584821
NM_014140.4(SMARCAL1):c.693A>G (p.Gln231=)
NM_014140.4(SMARCAL1):c.69C>G (p.Arg23=) rs1574442911
NM_014140.4(SMARCAL1):c.717A>G (p.Gly239=) rs1574443774
NM_014140.4(SMARCAL1):c.720G>A (p.Lys240=)
NM_014140.4(SMARCAL1):c.723C>T (p.Cys241=)
NM_014140.4(SMARCAL1):c.724G>A (p.Val242Ile)
NM_014140.4(SMARCAL1):c.726A>T (p.Val242=) rs146658939
NM_014140.4(SMARCAL1):c.732C>T (p.Asn244=)
NM_014140.4(SMARCAL1):c.738T>C (p.Asp246=) rs765629645
NM_014140.4(SMARCAL1):c.762C>T (p.Tyr254=)
NM_014140.4(SMARCAL1):c.767C>T (p.Ala256Val)
NM_014140.4(SMARCAL1):c.771A>G (p.Glu257=)
NM_014140.4(SMARCAL1):c.777T>C (p.Ile259=)
NM_014140.4(SMARCAL1):c.780A>G (p.Ala260=)
NM_014140.4(SMARCAL1):c.782T>A (p.Val261Glu)
NM_014140.4(SMARCAL1):c.786T>C (p.Phe262=)
NM_014140.4(SMARCAL1):c.786dup (p.Lys263Ter)
NM_014140.4(SMARCAL1):c.807T>C (p.Asn269=) rs1574443924
NM_014140.4(SMARCAL1):c.811+10T>C
NM_014140.4(SMARCAL1):c.811+6G>A
NM_014140.4(SMARCAL1):c.811+8C>T
NM_014140.4(SMARCAL1):c.812-8T>C
NM_014140.4(SMARCAL1):c.827C>T (p.Thr276Met)
NM_014140.4(SMARCAL1):c.828G>T (p.Thr276=)
NM_014140.4(SMARCAL1):c.841A>G (p.Met281Val)
NM_014140.4(SMARCAL1):c.862+10C>A
NM_014140.4(SMARCAL1):c.863-19G>A
NM_014140.4(SMARCAL1):c.863-6T>G
NM_014140.4(SMARCAL1):c.866A>C (p.Lys289Thr)
NM_014140.4(SMARCAL1):c.87G>A (p.Leu29=)
NM_014140.4(SMARCAL1):c.885C>A (p.Pro295=)
NM_014140.4(SMARCAL1):c.888G>A (p.Thr296=)
NM_014140.4(SMARCAL1):c.92A>G (p.Glu31Gly)
NM_014140.4(SMARCAL1):c.939C>T (p.Ser313=)
NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser)
NM_014140.4(SMARCAL1):c.969A>G (p.Pro323=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.